{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T15:37:03Z","timestamp":1789832223809,"version":"4.0.1"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2021,6,15]],"date-time":"2021-06-15T00:00:00Z","timestamp":1623715200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["DK11794"],"award-info":[{"award-number":["DK11794"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["DK46718"],"award-info":[{"award-number":["DK46718"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JBMR Plus"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    In 1980, Farfel and colleagues (\n                    <jats:italic>NEJM<\/jats:italic>\n                    , 1980;303:237\u201342) provided first evidence for two distinct variants of pseudohypoparathyroidism (PHP) that present with hypocalcemia and impaired parathyroid hormone (PTH)\u2010stimulated urinary cAMP and phosphate excretion, either in the presence or absence of Albright's hereditary osteodystrophy (AHO). An \u201cabnormal allele\u201d and an \u201cunexpressed allele\u201d were considered as underlying defects, predictions that turned out to be correct for both forms of PHP. Patients affected by the first variant (now referred to as PHP1A) were later shown to be carriers of inactivating mutations involving the maternal\n                    <jats:italic>GNAS<\/jats:italic>\n                    exons encoding Gs\u03b1. Patients affected by the second variant (now referred to as PHP1B) were shown in the current study to carry a maternal 3\u2010kb\n                    <jats:italic>STX16<\/jats:italic>\n                    deletion, the most frequent cause of autosomal dominant PHP1B, which is associated with loss of methylation at\n                    <jats:italic>GNAS<\/jats:italic>\n                    exon A\/B that reduces or abolishes maternal Gs\u03b1 expression. However, the distinct maternal mutations leading to either PHP1A or PHP1B are disease\u2010causing only because paternal Gs\u03b1 expression in the proximal renal tubules is silenced, ie, \u201cunexpressed.\u201d Our findings resolve at the molecular level carefully conducted investigations reported some 41\u2009years ago that had provided first clues for the existence of two distinct PHP variants. \u00a9 2021 The Authors.\n                    <jats:italic>JBMR Plus<\/jats:italic>\n                    published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.\n                  <\/jats:p>","DOI":"10.1002\/jbm4.10505","type":"journal-article","created":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T07:27:08Z","timestamp":1620113228000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A Distinct Variant of Pseudohypoparathyroidism (\n                    <scp>PHP<\/scp>\n                    ) First Characterized Some 41\u2009Years Ago Is Caused by the 3\u2010\n                    <scp>kb<\/scp>\n                    <i>STX16<\/i>\n                    Deletion"],"prefix":"10.1093","volume":"5","author":[{"given":"Zentaro","family":"Kiuchi","sequence":"first","affiliation":[{"name":"Endocrine Unit Massachusetts General Hospital and Harvard Medical School  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Reyes","sequence":"additional","affiliation":[{"name":"Endocrine Unit Massachusetts General Hospital and Harvard Medical School  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold S","family":"Brickman","sequence":"additional","affiliation":[{"name":"School of Medicine University of California Los Angeles  Los Angeles CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"J\u00fcppner","sequence":"additional","affiliation":[{"name":"Endocrine Unit Massachusetts General Hospital and Harvard Medical School  Boston MA USA"},{"name":"Pediatric Nephrology Unit Massachusetts General Hospital and Harvard Medical School  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,6,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198007313030501"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(80)90563-X"},{"key":"e_1_2_9_4_1","first-page":"922","article-title":"Pseudohypoparathyroidism\u2014an example of \"Seabright\u2010Bantam syndrome\"","volume":"30","author":"Albright F","year":"1942","journal-title":"Endocrinology."},{"key":"e_1_2_9_5_1","first-page":"337","article-title":"Pseudo\u2010pseudohypoparathyroidism","volume":"65","author":"Albright F","year":"1952","journal-title":"Trans Assoc Am 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